Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotyp...Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotype.CASE SUMMARYThe proband developed diabetes at the age of 27 years, despite having a normalbody mass index (BMI). She exhibited partial impairment of islet function, testedpositive for islet antibodies, and required high doses of insulin. Her sister alsocarried the c.4G>A (p.Ala2Thr) mutation, and their mother was stronglysuspected to carry the mutated gene. Her sister developed diabetes around 40years of age and required high doses of insulin, while the mother was diagnosedin her 20s and was managed with oral hypoglycemic agents;neither of them wereobese.CONCLUSION p.Ala2Thr mutation carriers often experience relatively later onset and normalBMI. Treatment regimens vary between individuals.展开更多
目的:探讨Toll样受体4(toll-like receptor 4,TLR4)Thr399Ile基因多态性与胃癌易感性的关系。方法:通过计算机检索及手工检索,收集有关TLR4 Thr399Ile基因多态性与胃癌易感性的文献,筛选出符合纳入和排除标准的文献,应用Meta分析软件对...目的:探讨Toll样受体4(toll-like receptor 4,TLR4)Thr399Ile基因多态性与胃癌易感性的关系。方法:通过计算机检索及手工检索,收集有关TLR4 Thr399Ile基因多态性与胃癌易感性的文献,筛选出符合纳入和排除标准的文献,应用Meta分析软件对各项研究进行异质性检验,计算合并OR值及其95%CI,并行敏感性分析和发表偏倚的评估。结果:8篇文献纳入本研究,共计有1297例胃癌患者和2702例对照人群。TLR4Thr399Ile基因多态性与胃癌易感性的研究结果为:T versus C:OR=1.307,95%CI=1.047-1.631;TT versus CC:OR=1.527,95%CI=0.398-5.860;TC versus CC:OR=1.324,95%CI=1.049-1.670;TT/TC versus CC:OR=1.326,95%CI=1.053-1.671;TT versus TC/CC:OR=1.481,95%CI=0.386-5.685。根据种族来源进行分层分析,在高加索人群中的研究结果为:T versus C:OR=1.298,95%CI=1.027-1.640;TC versus CC:OR=1.313,95%CI=1.027-1.679;TT/TC versus CC:OR=1.316,95%CI=1.031-1.679。结论:TLR4Thr399Ile TC、TT/TC基因型及T等位基因能增加胃癌的患病风险。展开更多
基金National Natural Science Foundation of China,No.82270881.
文摘Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotype.CASE SUMMARYThe proband developed diabetes at the age of 27 years, despite having a normalbody mass index (BMI). She exhibited partial impairment of islet function, testedpositive for islet antibodies, and required high doses of insulin. Her sister alsocarried the c.4G>A (p.Ala2Thr) mutation, and their mother was stronglysuspected to carry the mutated gene. Her sister developed diabetes around 40years of age and required high doses of insulin, while the mother was diagnosedin her 20s and was managed with oral hypoglycemic agents;neither of them wereobese.CONCLUSION p.Ala2Thr mutation carriers often experience relatively later onset and normalBMI. Treatment regimens vary between individuals.
文摘目的:探讨Toll样受体4(toll-like receptor 4,TLR4)Thr399Ile基因多态性与胃癌易感性的关系。方法:通过计算机检索及手工检索,收集有关TLR4 Thr399Ile基因多态性与胃癌易感性的文献,筛选出符合纳入和排除标准的文献,应用Meta分析软件对各项研究进行异质性检验,计算合并OR值及其95%CI,并行敏感性分析和发表偏倚的评估。结果:8篇文献纳入本研究,共计有1297例胃癌患者和2702例对照人群。TLR4Thr399Ile基因多态性与胃癌易感性的研究结果为:T versus C:OR=1.307,95%CI=1.047-1.631;TT versus CC:OR=1.527,95%CI=0.398-5.860;TC versus CC:OR=1.324,95%CI=1.049-1.670;TT/TC versus CC:OR=1.326,95%CI=1.053-1.671;TT versus TC/CC:OR=1.481,95%CI=0.386-5.685。根据种族来源进行分层分析,在高加索人群中的研究结果为:T versus C:OR=1.298,95%CI=1.027-1.640;TC versus CC:OR=1.313,95%CI=1.027-1.679;TT/TC versus CC:OR=1.316,95%CI=1.031-1.679。结论:TLR4Thr399Ile TC、TT/TC基因型及T等位基因能增加胃癌的患病风险。
